ClinVar for Gene (Select 4013) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332433	NM_001130142.2(VWA5A):c.635C>T (p.Thr212Ile)	VWA5A (T212I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332432	NM_001130142.2(VWA5A):c.914G>A (p.Arg305Gln)	VWA5A (R305Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332431	NM_001130142.2(VWA5A):c.1465A>G (p.Thr489Ala)	VWA5A (T489A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332430	NM_001130142.2(VWA5A):c.733G>C (p.Glu245Gln)	VWA5A (E245Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332429	NM_001130142.2(VWA5A):c.2018G>A (p.Ser673Asn)	VWA5A (S673N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332428	NM_001130142.2(VWA5A):c.1253C>T (p.Ser418Leu)	VWA5A (S418L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332427	NM_001130142.2(VWA5A):c.1844G>A (p.Gly615Asp)	VWA5A (G615D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332426	NM_001130142.2(VWA5A):c.302A>T (p.Glu101Val)	VWA5A (E101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332425	NM_001130142.2(VWA5A):c.668A>T (p.Lys223Met)	VWA5A (K223M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332424	NM_001130142.2(VWA5A):c.724G>A (p.Val242Met)	VWA5A (V242M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332423	NM_001130142.2(VWA5A):c.2239C>T (p.Leu747Phe)	VWA5A (L747F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189281	NM_001130142.2(VWA5A):c.940A>T (p.Ile314Phe)	VWA5A (I314F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189280	NM_001130142.2(VWA5A):c.722G>C (p.Ser241Thr)	VWA5A (S241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189279	NM_001130142.2(VWA5A):c.601T>A (p.Leu201Met)	VWA5A (L201M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189278	NM_001130142.2(VWA5A):c.475T>G (p.Ser159Ala)	VWA5A (S159A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189277	NM_001130142.2(VWA5A):c.31C>T (p.His11Tyr)	VWA5A (H11Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189276	NM_001130142.2(VWA5A):c.2305A>G (p.Lys769Glu)	VWA5A (K769E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189275	NM_001130142.2(VWA5A):c.2282G>C (p.Gly761Ala)	VWA5A (G761A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189274	NM_001130142.2(VWA5A):c.2072A>G (p.Asn691Ser)	VWA5A (N691S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189273	NM_001130142.2(VWA5A):c.1979A>G (p.Tyr660Cys)	VWA5A (Y660C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189272	NM_001130142.2(VWA5A):c.1907G>A (p.Arg636His)	VWA5A (R636H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189271	NM_001130142.2(VWA5A):c.1507C>G (p.Leu503Val)	VWA5A (L503V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189270	NM_001130142.2(VWA5A):c.146C>T (p.Ala49Val)	VWA5A (A49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189269	NM_001130142.2(VWA5A):c.1382C>T (p.Ser461Phe)	VWA5A (S461F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189268	NM_001130142.2(VWA5A):c.1199C>T (p.Thr400Met)	VWA5A (T400M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189267	NM_001130142.2(VWA5A):c.1087G>A (p.Asp363Asn)	VWA5A (D363N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063186	GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1	ACRV1, BLID +73 more	Copy number loss	not specified	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2604270	NM_001130142.2(VWA5A):c.2192T>G (p.Val731Gly)	VWA5A (V731G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591419	NM_001130142.2(VWA5A):c.578A>G (p.Glu193Gly)	VWA5A (E193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591341	NM_001130142.2(VWA5A):c.1793C>T (p.Pro598Leu)	VWA5A (P598L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556297	NM_001130142.2(VWA5A):c.1261A>G (p.Ile421Val)	VWA5A (I421V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526200	NM_001130142.2(VWA5A):c.216A>T (p.Lys72Asn)	VWA5A (K72N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522272	NM_001130142.2(VWA5A):c.1303C>T (p.Arg435Trp)	VWA5A (R435W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518018	NM_001130142.2(VWA5A):c.863G>A (p.Arg288His)	VWA5A (R288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515643	NM_001130142.2(VWA5A):c.1223G>A (p.Arg408Lys)	VWA5A (R408K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510398	NM_001130142.2(VWA5A):c.1639C>T (p.Arg547Cys)	VWA5A (R547C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2490521	NM_001130142.2(VWA5A):c.1556A>G (p.Lys519Arg)	VWA5A (K519R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485973	NM_001130142.2(VWA5A):c.1417T>G (p.Trp473Gly)	VWA5A (W473G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475918	NM_001130142.2(VWA5A):c.1387C>A (p.Gln463Lys)	VWA5A (Q463K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471553	NM_001130142.2(VWA5A):c.1829G>A (p.Arg610Lys)	VWA5A (R610K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468911	NM_001130142.2(VWA5A):c.538C>T (p.Leu180Phe)	VWA5A (L180F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467200	NM_001130142.2(VWA5A):c.1550G>T (p.Cys517Phe)	VWA5A (C517F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426317	NC_000011.9:g.(?_123504851)_(126163012_?)del	ACRV1, CCDC15 +56 more	Deletion	not provided	GUncertain significance
Select item 2404910	NM_001130142.2(VWA5A):c.154G>T (p.Val52Leu)	VWA5A (V52L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338147	NM_001130142.2(VWA5A):c.260A>G (p.Tyr87Cys)	VWA5A (Y87C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325234	NM_001130142.2(VWA5A):c.35G>A (p.Arg12Gln)	VWA5A (R12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322961	NM_001130142.2(VWA5A):c.1659G>T (p.Leu553Phe)	VWA5A (L553F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2322074	NM_001130142.2(VWA5A):c.1971G>A (p.Met657Ile)	VWA5A (M657I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280653	NM_001130142.2(VWA5A):c.1580T>C (p.Phe527Ser)	VWA5A (F527S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273492	NM_001130142.2(VWA5A):c.1197C>A (p.Asp399Glu)	VWA5A (D399E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268094	NM_001130142.2(VWA5A):c.1150G>A (p.Gly384Ser)	VWA5A (G384S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264345	NM_001130142.2(VWA5A):c.1852G>A (p.Ala618Thr)	VWA5A (A618T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262887	NM_001130142.2(VWA5A):c.217A>G (p.Ile73Val)	VWA5A (I73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239152	NM_001130142.2(VWA5A):c.1843G>T (p.Gly615Cys)	VWA5A (G615C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236402	NM_001130142.2(VWA5A):c.1606C>A (p.Gln536Lys)	VWA5A (Q536K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224826	NM_001130142.2(VWA5A):c.886A>G (p.Met296Val)	VWA5A (M296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220699	NM_001130142.2(VWA5A):c.1438T>C (p.Ser480Pro)	VWA5A (S480P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205185	NM_001130142.2(VWA5A):c.1300G>C (p.Ala434Pro)	VWA5A (A434P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808652	GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	ACAD8, ACRV1 +94 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1375927	NC_000011.9:g.(?_123504851)_(126163012_?)dup	ACRV1, CCDC15 +56 more	Duplication	Holoprosencephaly 11	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815475	GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	not provided	GPathogenic
Select item 812956	Single allele	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	ABCG4, ACAD8 +160 more	Copy number gain	not provided	GPathogenic
Select item 638099	GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	ABCG4, ACAD8 +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563882	GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1	ACAD8, ACRV1 +114 more	Copy number loss	not provided	GPathogenic
Select item 545140	Single allele	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443847	GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3	CHEK1, CLMP +95 more	Copy number gain	See cases	GPathogenic
Select item 443289	GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 442908	GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	See cases	GPathogenic
Select item 442155	GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1	ACAD8, ACRV1 +105 more	Copy number loss	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	MSANTD2, NCAPD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 394270	GRCh37/hg19 11q24.2(chr11:123995450-124044984)x1	VWA5A	Copy number loss	See cases	GLikely benign
Select item 393778	GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1	PATE2, PATE3 +104 more	Copy number loss	See cases	GPathogenic
Select item 253601	GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	ACAD8, ACRV1 +113 more	Copy number loss	See cases	GPathogenic
Select item 253521	GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1	CCDC15, CDON +108 more	Copy number loss	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 152641	GRCh38/hg38 11q24.1-24.2(chr11:123543649-124802201)x3	ESAM, ESAM-AS1 +59 more	Copy number gain	See cases	GUncertain significance
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	ABCG4, ACRV1 +499 more	Copy number gain	See cases	GPathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	LOC130007012, LOC130007013 +769 more	Copy number gain	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic

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